ABCA12 gene related symptoms and diseases

All the information presented here about the ABCA12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET.

Top 5 symptoms associated to ABCA12 gene



Symptoms // Phenotype % Cases
Ichthyosis Very Common - Between 80% and 100% cases
Ectropion Very Common - Between 80% and 100% cases
Erythroderma Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Lack of skin elasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with ABCA12 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Dehydration Sepsis Everted lower lip vermilion Hyperkeratosis Autosomal recessive inheritance Recurrent respiratory infections Congenital ichthyosiform erythroderma Palmoplantar keratoderma

And 54 more phenotypes.

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Rare diseases associated to ABCA12 gene

Here you will find a list of rare diseases related to the ABCA12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Alternate names

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as cie; erythrodermic ichthyosis; non-bullous congenital ichthyosiform erythroderma

Description

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

Most common symptoms of CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Alopecia
  • Pruritus


More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

SOURCES: UMLS ORPHANET

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B

Alternate names

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B Is also known as ichthyosis congenita, harlequin fetus type, harlequin ichthyosis;hi, 'harlequin fetus';hi; ichthyosis congenita, harlequin type; ichthyosis fetalis, harlequin type

Description

Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see {242300}) (summary by Rajpopat et al., 2011).At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis (Oji et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

Most common symptoms of ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Cataract
  • Tics


More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B

SOURCES: ICD10 GARD SCTID ORPHANET OMIM DOID NCIT MONDO

LAMELLAR ICHTHYOSIS

Alternate names

LAMELLAR ICHTHYOSIS Is also known as classic lamellar ichthyosis; congenital lamellar ichthyosis; li

Description

Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.

Most common symptoms of LAMELLAR ICHTHYOSIS

  • Short stature
  • Cognitive impairment
  • Renal insufficiency
  • Abnormality of the dentition
  • Recurrent respiratory infections


More info about LAMELLAR ICHTHYOSIS

SOURCES: ORPHANET ICD10

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A

Alternate names

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A Is also known as ichthyosis congenita iib;icr2b, ichthyosis, lamellar, 2, formerly;li2, formerly

Description

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

Most common symptoms of ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A

  • Autosomal recessive inheritance
  • Splenomegaly
  • Erythema
  • Hepatosplenomegaly
  • Abnormality of the nervous system


More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A

SOURCES: OMIM UMLS

Potential gene panels for ABCA12 gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

More info about this panel

ABCA12 Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the ABCA12 gene.

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ABCA12 Gene Sequencing Panel

By GeneDx in United States.

This panel specifically test the ABCA12 gene.

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ABCA12 Select Exon Sequencing Panel

By GeneDx in United States.

This panel specifically test the ABCA12 gene.

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ABCA12. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the ABCA12 gene.

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ABCA12. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the ABCA12 gene.

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TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS that also includes the following genes: ABCA12 ALOX12B ALOXE3

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Ichthyosis, AR 4B (harlequin) (sequence analysis of ABCA12 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCA12 gene.

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Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the ABCA12 gene.

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Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: ABCA12 ABHD5 TGM1 CLDN1 ALOX12B KRT9 SLC27A4 KRT10 NIPAL4 KRT1

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Ichthyosis Deletion / Duplication panel Panel

By Connective Tissue Gene Tests in United States. Ichthyosis Deletion / Duplication panel that also includes the following genes: ABCA12 TGM1 GJB3 GJA1 TGM5 CHST8 CDSN ALOX12B KRT10 NIPAL4

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Ichthyosis NGS panel Panel

By Connective Tissue Gene Tests in United States. Ichthyosis NGS panel that also includes the following genes: ABCA12 TGM1 GJB3 GJA1 TGM5 CHST8 CDSN ALOX12B KRT10 NIPAL4

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Ichthyosis Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. Ichthyosis Comprehensive panel that also includes the following genes: ABCA12 TGM1 GJB3 GJA1 TGM5 CHST8 CDSN ALOX12B KRT10 NIPAL4

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Ichthyosis, lamellar type 2 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA12 gene.

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Ichthyosis congenita, Harlequin fetus type Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA12 gene.

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CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

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Ichthyoses and related disorders of cornification Panel Panel

By CeGaT GmbH in Germany. Ichthyoses and related disorders of cornification Panel that also includes the following genes: ABCA12 ELOVL4 DSP TAT ABHD5 ALDH3A2 PHYH ALMS1 GJB2 GJB6

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ICHTHYOSIS (CONGENITAL) Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ICHTHYOSIS (CONGENITAL) that also includes the following genes: ABCA12 TGM1 ALOX12B NIPAL4 ALOXE3 PNPLA1 KRT2 CYP4F22

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ABCA12 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCA12 gene.

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Ichthyosis Panel Panel

By Blueprint Genetics in Finland. Ichthyosis Panel that also includes the following genes: ABCA12 ABHD5 ALDH3A2 PHYH GJB2 PEX7 SUMF1 TGM1 ERCC2 GJB3

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Congenital lamellar ichthyosis type 4A Panel

By Bioarray in Spain.

This panel specifically test the ABCA12 gene.

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Harlequin ichthyosis Panel

By Bioarray in Spain.

This panel specifically test the ABCA12 gene.

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CarrierMap Panel

By Recombine in United States. CarrierMap that also includes the following genes: FMR1 MTHFR MCCC1 MCCC2 ABCB11 ACADM ACADS AGL ACADVL ACAT1

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ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL Panel

By Laboratorio de Genetica Clinica SL in Spain. ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL that also includes the following genes: ABCA12 TGM1 ALOX12B NIPAL4 CERS3 ALOXE3 PNPLA1 CYP4F22 LIPN

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ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE Panel

By Laboratorio de Genetica Clinica SL in Spain. ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE that also includes the following genes: ABCA12 TGM1 ALOX12B NIPAL4 CERS3 ALOXE3 PNPLA1 CYP4F22 LIPN

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ICHTHYOSIS CONGENITA, HARLEQUIN-TYPE Panel

By Laboratorio de Genetica Clinica SL in Spain.

This panel specifically test the ABCA12 gene.

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ICHTHYOSIS, LAMELLAR , TYPE 1 Panel

By Laboratorio de Genetica Clinica SL in Spain.

This panel specifically test the ABCA12 gene.

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ICHTHYOSIS, LAMELLAR , TYPE 2 Panel

By Laboratorio de Genetica Clinica SL in Spain.

This panel specifically test the ABCA12 gene.

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Congenital Ichthyosis Type Harlequin Fetus , Sequencing ABCA12 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABCA12 gene.

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Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

By Reference Laboratory Genetics in Spain. Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: ABCA12 PHYH GJB2 PEX7 SUMF1 TGM1 ERCC3 GJB3 EBP TGM5

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Harlequin Ichthyosis Panel

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

This panel specifically test the ABCA12 gene.

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